ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3474G>A (p.Met1158Ile) (rs767774116)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000616206 SCV000712330 uncertain significance not specified 2017-05-16 criteria provided, single submitter clinical testing The p.Met1158Ile variant in OTOG has been identified by our laboratory in 1 indi vidual who had an alternative genetic cause for the hearing loss. It has also be en identified in 2/52752 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs767774116). The methionine ( Met) at position 1158 is not conserved in mammals or evolutionary distant specie s and computational prediction tools suggest that this variant may not impact th e protein, raising the possibility that a change at this position may be tolerat ed. However, this information is not predictive enough to rule out pathogenicity . In summary, the clinical significance of the p.Met1158Ile variant is uncertain .

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